Ontology highlight
ABSTRACT:
SUBMITTER: Camacho N
PROVIDER: S-EPMC4169191 | biostudies-literature | 2010 May
REPOSITORIES: biostudies-literature
Camacho Natalia N Krakow Deborah D Johnykutty Sharlin S Katzman Philip J PJ Pepkowitz Samuel S Vriens Joris J Nilius Bernd B Boyce Brendan F BF Cohn Daniel H DH
American journal of medical genetics. Part A 20100501 5
Metatropic dysplasia is a clinical heterogeneous skeletal dysplasia characterized by short extremities, a short trunk with progressive kyphoscoliosis, and craniofacial abnormalities that include a prominent forehead, midface hypoplasia, and a squared-off jaw. Dominant mutations in the gene encoding TRPV4, a calcium permeable ion channel, were identified all 10 of a series of metatropic dysplasia cases, ranging in severity from mild to perinatal lethal. These data demonstrate that the lethal form ...[more]